Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.
Black
C
C
Department of Pathology, Ninewells Hospital and Medical School, Dundee, UK.
Withers
A P
AP
Gray
J R
JR
Bridges
A B
AB
Craig
A
A
Baty
D U
DU
Boxer
M
M
D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001120:Arginine; D001483:Base Sequence; D003545:Cysteine; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics* / Q000473:pathology; D008840:Microfilament Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D054392:Adipokines
D001120:Arginine; D003545:Cysteine; D004247:DNA; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines